{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T00:51:17Z","timestamp":1791161477889,"version":"4.1.0"},"reference-count":28,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T00:00:00Z","timestamp":1787529600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100011731","name":"Action for AT","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011731","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014013","name":"UK Research and Innovation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014013","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007155","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/W029790\/1"],"award-info":[{"award-number":["MR\/W029790\/1"]}],"id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007155","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/V009346\/1"],"award-info":[{"award-number":["MR\/V009346\/1"]}],"id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Marmaduke Sheild Fund"},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["226653\/Z\/22\/Z"],"award-info":[{"award-number":["226653\/Z\/22\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Hereditary Neuropathy Foundation"},{"DOI":"10.13039\/501100004923","name":"AFM-Telethon","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000346","name":"Ataxia UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000346","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008164","name":"Muscular Dystrophy UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008164","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000833","name":"Rosetrees Trust","doi-asserted-by":"publisher","award":["PGL23\/100048"],"award-info":[{"award-number":["PGL23\/100048"]}],"id":[{"id":"10.13039\/501100000833","id-type":"DOI","asserted-by":"publisher"}]},{"name":"LifeArc Centre to Treat Mitochondrial Diseases"},{"DOI":"10.13039\/100018693","name":"Horizon Europe","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100018693","id-type":"DOI","asserted-by":"publisher"}]},{"name":"International Centre for Genomic Medicine in Neuromuscular Diseases","award":["MR\/S005021\/1"],"award-info":[{"award-number":["MR\/S005021\/1"]}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100018956","name":"Cambridge Biomedical Research Centre","doi-asserted-by":"publisher","award":["NIHR203312"],"award-info":[{"award-number":["NIHR203312"]}],"id":[{"id":"10.13039\/501100018956","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,10,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Ataxia-telangiectasia (AT) is a rare, multisystem neurodegenerative disorder with marked clinical heterogeneity. Longitudinal data on neurological progression remain limited, restricting understanding of disease mechanisms and therapeutic trial design.<\/jats:p>\n                  <jats:p>We analysed longitudinal Scale for the Assessment and Rating of Ataxia (SARA) data from the largest published adult AT cohort to date (n = 82, age &amp;gt; 16 years). Linear mixed-effects models were used to estimate severity at the earliest available neurological evaluation (baseline) and annual progression rates (points\/year) in classic and variant AT, and to examine clinical and genetic modifiers.<\/jats:p>\n                  <jats:p>Neurological impairment progressed with a mean SARA increase of 0.38 points\/year. Adults with classic AT were more severely affected than those with variant AT, with SARA scores approximately 8\u20139 points higher at baseline. However, neurological progression in adulthood was similar between classic and variant AT (0.33 versus 0.41 points\/year), which includes 15 individuals with the antisense oligonucleotide targetable c.5763-1050A&amp;gt;G variant.<\/jats:p>\n                  <jats:p>Although AT subtypes differ substantially in childhood and adolescence, neurological decline converges to a similar pace in adulthood, irrespective of subtype or genotype. SARA remains a useful outcome measure but may underestimate progression in advanced disease and non-cerebellar domains. These findings inform counselling, prognostication and the design of interventional trials, including mutation-specific therapies.<\/jats:p>","DOI":"10.1093\/brain\/awag285","type":"journal-article","created":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T11:43:10Z","timestamp":1787312590000},"page":"3387-3394","source":"Crossref","is-referenced-by-count":0,"title":["Neurological disease progression in adults with ataxia-telangiectasia: a longitudinal study"],"prefix":"10.1093","volume":"149","author":[{"given":"Anke","family":"Hensiek","sequence":"first","affiliation":[{"name":"Department of Clinical Neurosciences, University of Cambridge , Cambridge CB2 0SR ,","place":["UK"]},{"name":"National Clinic for Adults with Ataxia Telangiectasia, Papworth Hospital , Cambridge CB2 0AY ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo","family":"Bottolo","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine, Cambridge Biomedical Campus, University of Cambridge , Cambridge CB2 0QQ ,","place":["UK"]},{"name":"MRC Biostatistics Unit, Cambridge Biomedical Campus, University of Cambridge , Cambridge CB2 0SR ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3183-7087","authenticated-orcid":false,"given":"May Yung","family":"Tiet","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, University of Cambridge , Cambridge CB2 0SR ,","place":["UK"]},{"name":"National Clinic for Adults with Ataxia Telangiectasia, Papworth Hospital , Cambridge CB2 0AY ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Harrison","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, University of Cambridge , Cambridge CB2 0SR ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Ashby","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, University of Cambridge , Cambridge CB2 0SR ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catarina","family":"Olympio","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, University of Cambridge , Cambridge CB2 0SR ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Biggs","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, University of Cambridge , Cambridge CB2 0SR ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natasha","family":"Everett","sequence":"additional","affiliation":[{"name":"National Clinic for Adults with Ataxia Telangiectasia, Papworth Hospital , Cambridge CB2 0AY ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Schon","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, University of Cambridge , Cambridge CB2 0SR ,","place":["UK"]},{"name":"Department of Genomic Medicine, Cambridge Biomedical Campus, University of Cambridge , Cambridge CB2 0QQ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9841-170X","authenticated-orcid":false,"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, University of Cambridge , Cambridge CB2 0SR ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,8,24]]},"reference":[{"key":"2026100419580708800_awag285-B1","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1186\/s13023-016-0543-7","article-title":"Ataxia telangiectasia: 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